ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu)

dbSNP: rs2146238910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379457 SCV001577260 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2020-03-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 755 of the SMARCA4 protein (p.Lys755Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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